A SPLICE JUNCTION MUTATION IN PAX3 CAUSES WAARDENBURG SYNDROME IN A SOUTH-AFRICAN FAMILY

被引：20

作者：

BUTT, J

GREENBERG, J

WINSHIP, I

SELLARS, S

BEIGHTON, P

RAMESAR, R

机构：

[1] UNIV CAPE TOWN,SCH MED,DEPT HUMAN GENET,CAPE TOWN 7925,SOUTH AFRICA

[2] GROOTE SCHUUR HOSP,DEPT OTOLARYNGOL,CAPE TOWN 7925,SOUTH AFRICA

来源：

HUMAN MOLECULAR GENETICS | 1994年 / 3卷 / 01期

基金：

英国医学研究理事会;

关键词：

D O I：

10.1093/hmg/3.1.197

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

[No abstract available]

引用

页码：197 / 198

页数：2

共 18 条

[11]

KUIVANIEMI H, 1990, J BIOL CHEM, V265, P12067

[12] DETECTION OF SMALL RB1 GENE DELETIONS IN RETINOBLASTOMA BY MULTIPLEX PCR AND HIGH-RESOLUTION GEL-ELECTROPHORESIS [J].

LOHMANN, D ;

HORSTHEMKE, B ;

GILLESSENKAESBACH, G ;

STEFANI, FH ;

HOFLER, H .

HUMAN GENETICS, 1992, 89 (01) :49-53

[13]

Morell Robert, 1992, Human Molecular Genetics, V1, P243, DOI 10.1093/hmg/1.4.243

[14] SPLICING OF MESSENGER-RNA PRECURSORS [J].

PADGETT, RA ;

GRABOWSKI, PJ ;

KONARSKA, MM ;

SEILER, S ;

SHARP, PA .

ANNUAL REVIEW OF BIOCHEMISTRY, 1986, 55 :1119-1150

[15] HEMOPHILIA-B CAUSED BY A POINT MUTATION IN A DONOR SPLICE JUNCTION OF THE HUMAN FACTOR-IX GENE [J].

REES, DJG ;

RIZZA, CR ;

BROWNLEE, GG .

NATURE, 1985, 316 (6029) :643-645

[16] WAARDENBURG SYNDROME PATIENTS HAVE MUTATIONS IN THE HUMAN HOMOLOG OF THE PAX-3 PAIRED BOX GENE [J].

TASSABEHJI, M ;

READ, AP ;

NEWTON, VE ;

HARRIS, R ;

BALLING, R ;

GRUSS, P ;

STRACHAN, T .

NATURE, 1992, 355 (6361) :635-636

[17] MUTATIONS IN THE PAX3 GENE CAUSING WAARDENBURG SYNDROME TYPE-1 AND TYPE-2 [J].

TASSABEHJI, M ;

READ, AP ;

NEWTON, VE ;

PATTON, M ;

GRUSS, P ;

HARRIS, R ;

STRACHAN, T .

NATURE GENETICS, 1993, 3 (01) :26-30

[18] IDENTIFICATION OF MUTATIONS IN EXON-1 THROUGH EXON-8 OF THE CYSTIC-FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR (CFTR) GENE [J].

ZIELENSKI, J ;

BOZON, D ;

KEREM, BS ;

MARKIEWICZ, D ;

DURIE, P ;

ROMMENS, JM ;

TSUI, LC .

GENOMICS, 1991, 10 (01) :229-235

← 1 2 →